DisGeNET - a database of gene-disease associations

List of shared variants

Neoplasm Metastasis, C0027627

Disease: Primary malignant neoplasm

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	68
rs1800734	EPM2AIP1 ; MLH1	0.653	0.400	3	36993455	5 prime UTR variant	G/A	snv		0.22	30
rs373572	RAD18	0.882	0.120	3	8913705	missense variant	C/T	snv	0.68	0.70	6
rs752021744	PIK3CB	0.689	0.440	3	138759306	missense variant	T/C	snv	1.2E-05		29
rs2282679	GC	0.645	0.480	4	71742666	intron variant	T/G	snv		0.21	38
rs2555639		0.851	0.080	4	174540379	non coding transcript exon variant	T/C	snv		0.38	7
rs60745952	LOC107986195 ; LOC105377481	0.925	0.080	4	148827842	intron variant	T/C	snv		0.13	6
rs7668666	TLR3	1.000		4	186080138	intron variant	C/A;T	snv			4
rs121913331	APC	0.851	0.120	5	112838934	stop gained	C/A;T	snv	8.0E-06		11
rs1285136498	NR3C1	0.807	0.080	5	143400101	missense variant	G/A	snv			13
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs3212227	IL12B	0.566	0.840	5	159315942	3 prime UTR variant	T/G	snv		0.26	65
rs351855	FGFR4	0.597	0.560	5	177093242	missense variant	G/A	snv	0.33	0.26	58
rs1570360	VEGFA	0.641	0.680	6	43770093	upstream gene variant	A/G	snv		0.76	38
rs1800624	PBX2 ; AGER	0.658	0.480	6	32184610	upstream gene variant	A/G;T	snv			33
rs1800625	AGER ; PBX2	0.641	0.680	6	32184665	upstream gene variant	A/G	snv		0.15	39
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs699947	VEGFA	0.570	0.680	6	43768652	upstream gene variant	A/C;T	snv			67
rs77191406	TNFAIP3	0.790	0.280	6	137881704	3 prime UTR variant	C/T	snv		7.2E-04	12
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv			72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs1213469537	CAV1	0.882	0.080	7	116559145	missense variant	C/T	snv	4.0E-06	1.4E-05	9
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73